Allele Registry

Canonical Allele Identifier: PA916016062

Gene: BLM HGNC NCBI

ClinVar Allele:

464692

ClinVar RCV:

RCV000527567

RCV001014494

ClinVar Variation:

454096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Val721Ile	CA7738669 NM_001287247.2:c.2161G>A